Ballantyne D, Jubb J S, Morgan H G, Lawrie T D
J Clin Pathol. 1973 Mar;26(3):163-6. doi: 10.1136/jcp.26.3.163.
A 49-year-old woman, suffering from peripheral vascular disease, was found to have two lipoprotein abnormalities, namely, type III hyperlipoproteinaemia and sinking prebeta lipoprotein. Twenty-one members of the kindred were investigated in an attempt to determine the pattern of inheritance of both of these abnormalities. In a 21-year-old son of the proband plasma electrophoresis was in keeping with a type V hyperlipoproteinaemia. It is suggested that this may be a stage in the development of the characteristic type III pattern. If this is so it is consistent with previous suggestions of an incompletely penetrant single autosomal allele. Sinking prebeta lipoprotein was found in the plasma of two other members of the family. If this abnormality is also inherited as a single autosomal allele it must have a very low penetrance and the possibility that the abnormality is acquired cannot be excluded.
一名49岁患有外周血管疾病的女性被发现有两种脂蛋白异常，即III型高脂蛋白血症和前β脂蛋白下沉。对该家族的21名成员进行了调查，试图确定这两种异常的遗传模式。在先证者的一名21岁儿子中，血浆电泳结果符合V型高脂蛋白血症。有人认为这可能是特征性III型模式发展的一个阶段。如果是这样，这与之前关于不完全显性的单个常染色体等位基因的观点一致。在该家族的另外两名成员血浆中发现了前β脂蛋白下沉。如果这种异常也是作为单个常染色体等位基因遗传的，那么它的外显率一定非常低，并且不能排除这种异常是后天获得的可能性。
